SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2148183874 ADGRG1 Health Risk Pathogenic —
RS2148184028 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2148184058 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148184147 DMD Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2148184336 ALPL Health Risk Pathogenic —
RS2148184355 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2148184404 ALPL Health Risk Pathogenic Hypophosphatasia, Adult hypophosphatasia
RS2148184407 DNASE1L1;LOC130068869;TAFAZZIN Health Risk Pathogenic —
RS2148184506 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS2148184571 DMD Health Risk Pathogenic —
RS2148184732 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148184736 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS2148184754 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS2148184880 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Adult hypophosphatasia
RS2148185111 TAFAZZIN Health Risk Pathogenic/Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2148185606 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2148186224 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2148186695 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2148189619 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2148189653 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2148189993 SLC9A6 Health Risk Likely pathogenic Christianson syndrome, Christianson syndrome
RS2148190013 SLC9A6 Health Risk Pathogenic/Likely pathogenic Christianson syndrome, Christianson syndrome
RS2148190075 ALPL Health Risk Likely pathogenic —
RS2148190118 ALPL Health Risk Pathogenic —
RS2148191858 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2148192290 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2148192392 POMGNT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2148192403 ALPL Health Risk Pathogenic Hypophosphatasia, Adult hypophosphatasia
RS2148192417 ALPL Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS2148192444 ALPL Health Risk Likely pathogenic Hypophosphatasia, Adult hypophosphatasia
RS2148192455 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS2148192467 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2148192552 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Hypophosphatasia
RS2148192656 ALPL Health Risk Pathogenic —
RS2148192725 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2148193045 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148193225 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2148193545 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148193752 KDM6A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2148193855 KDM6A Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2148194212 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2148194520 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2148194576 TAFAZZIN Health Risk Likely pathogenic —
RS2148194615 ALPL Health Risk Likely pathogenic —
RS2148194744 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2148194946 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2148195004 ALPL Health Risk Likely pathogenic Hypophosphatasia, Adult hypophosphatasia
RS2148196270 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2148201789 SLC9A6 Health Risk Pathogenic Christianson syndrome, Christianson syndrome
RS2148204773 PKLR Health Risk Likely pathogenic —
RS2148204914 PKLR Health Risk Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS2148205473 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2148208099 PKLR Health Risk Pathogenic —
RS2148208689 STAG2 Health Risk Likely pathogenic —
RS2148209339 STAG2 Health Risk Pathogenic Holoprosencephaly 13, X-linked
RS2148211636 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2148212111 POMGNT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2148212610 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2148215487 ALK Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neuroblastoma
RS2148215943 MPV17;UCN Health Risk Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MPV17-related disorder
RS2148216335 MPV17 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, axonal
RS2148216461 MPV17 Health Risk Likely pathogenic —
RS2148217590 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2148218654 POMGNT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2148218886 PKLR Health Risk Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS2148221101 PKLR Health Risk Pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS2148221946 ATP6AP1 Health Risk Likely pathogenic Immunodeficiency 47, Immunodeficiency 47
RS2148221993 ATP6AP1 Health Risk Likely pathogenic —
RS2148222516 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2148222613 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2148223097 ATP6AP1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 47, Immunodeficiency 47
RS2148224789 ATP6AP1 Health Risk Likely pathogenic —
RS2148225515 MPV17 Health Risk Pathogenic —
RS2148225587 NBAS Health Risk Pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS2148226455 GDI1 Health Risk Likely pathogenic Intellectual disability, X-linked 41
RS2148227605 DMD Health Risk Pathogenic —
RS2148228335 GDI1 Health Risk Likely pathogenic Intellectual disability, X-linked 41
RS2148233321 NBAS Health Risk Pathogenic Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
RS2148238576 ADGRG1 Health Risk Pathogenic —
RS2148244740 ADGRG1 Health Risk Pathogenic —
RS2148246019 KIDINS220 Health Risk Pathogenic Ventriculomegaly and arthrogryposis, Ventriculomegaly and arthrogryposis
RS2148250838 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS2148257968 AHDC1 Health Risk Likely pathogenic —
RS2148258030 AHDC1 Health Risk Pathogenic —
RS2148258069 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2148258238 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS2148259374 ATRX Health Risk Likely pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2148259855 ATRX Health Risk Likely pathogenic —
RS2148260344 ATRX Health Risk Likely pathogenic ATRX-related disorder, ATRX-related disorder
RS2148260943 ATRX Health Risk Likely pathogenic Intellectual disability-hypotonic facies syndrome, X-linked
RS2148261114 ATRX Health Risk Pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2148263577 AHDC1 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2148263628 AHDC1 Health Risk Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2148264796 ITSN1 Health Risk Conflicting classifications of pathogenicity Autistic behavior, Autistic behavior
RS2148265222 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2148265469 AHDC1 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2148266336 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2148269372 AGBL5 Health Risk Pathogenic —
RS2148270367 ATRX Health Risk Likely pathogenic —
RS2148272898 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
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